Canonical Allele Identifier: CA2407481397

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928725_43928728delinsCAAG , CM000684.2:g.43928725_43928728delinsCAAG	GRCh38
NC_000022.10:g.44324605_44324608delinsCAAG , CM000684.1:g.44324605_44324608delinsCAAG	GRCh37
NC_000022.9:g.42655938_42655941delinsCAAG	NCBI36
NG_008631.1:g.9987_9990delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-99_421-96delinsCAAG MANE Select	ENSP00000216180.3:n.421-99_421-96delinsCAAG
ENST00000216180.7:c.421-99_421-96delinsCAAG	ENSP00000216180.3:n.421-99_421-96delinsCAAG
ENST00000406117.6:c.*53-99_*53-96delinsCAAG	ENSP00000384668.2:n.*53-99_*53-96delinsCAAG
ENST00000423180.2:c.409-99_409-96delinsCAAG	ENSP00000397987.2:n.409-99_409-96delinsCAAG
ENST00000478713.1:n.455-99_455-96delinsCAAG
NM_025225.2:c.421-99_421-96delinsCAAG	NP_079501.2:n.421-99_421-96delinsCAAG
NM_025225.3:c.421-99_421-96delinsCAAG MANE Select	NP_079501.2:n.421-99_421-96delinsCAAG